The c.850 + 5G>A variant is novel, with no prior report, whereas the c.851-33T>A variant represents a known hotspot mutation at this locus of the NTRK1 gene, associated with CIPA, expected to disrupt normal functionality, particularly prevalent in East Asian populations (Lee et al., 2009; Wang et al., 2017; Wang et al., 2018; Li et al., 2019; Zhao et al., 2020; Li L. et al., 2021; Yang et al., 2021). Here, NTRK1 is linked to hereditary sensory and autonomic neuropathy type 4.